List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.
View information by Inheritance Mode
| S.No. | Genetic Disorders (Gentigs update) Modes of inheritance |
Category | Gene symbol | Links | Indian context |
| 341 | Syndromic microphthalmia type 5 (Dec 29, 2023) Autosomal dominant |
Eye disorders |
OTX2 orthodenticle homeobox 2 |
PubMed | Reports |
| 342 | Synovial sarcoma (Dec 29, 2023) |
Cancer disorders |
SSX2 SSX family member 2 |
PubMed | Reports |
| 343 | T-cell large granular lymphocyte leukemia (Feb 20, 2024) |
Blood disorders |
STAT3 signal transducer and activator of transcription 3 |
PubMed | Reports |
| 344 | Tarsal-carpal coalition syndrome (Feb 01, 2024) Autosomal dominant |
Bone disorders |
NOG noggin |
PubMed | Reports |
| 345 | Thanatophoric dysplasia (Nov 30, 2023) Autosomal dominant |
Bone disorders |
FGFR3 fibroblast growth factor receptor 3 |
PubMed | Reports |
| 346 | TNF receptor-associated periodic fever syndrome (Sep 05, 2023) Autosomal dominant |
Immune disorders |
TNFRSF1A TNF receptor superfamily member 1A |
PubMed | Reports |
| 347 | Transverse myelitis (Sep 05, 2023) |
Immune disorders |
VPS37A VPS37A subunit of ESCRT-I |
PubMed | Reports |
| 348 | Trichorhinophalangeal syndrome (Dec 29, 2023) Autosomal dominant |
Bone disorders |
TRPS1 transcriptional repressor GATA binding 1 |
PubMed | Reports |
| 349 | Triglyceride storage disease with ichthyosis (Mar 09, 2023) Autosomal recessive |
Metabolic disorders/Lysosomal storage disorders |
ABHD5 abhydrolase domain containing 5, lysophosphatidic acid acyltransferase |
PubMed | Reports |
| 350 | Trimethylaminuria (Mar 09, 2023) Autosomal recessive |
Metabolic disorders |
FMO3 flavin containing dimethylaniline monoxygenase 3 |
PubMed | Reports |